Hereditary ataxia - adult onsetGene: ATP7B
In Sheffield panel. Tremors are a feature of Wilsons disease. 837 DM in HGMD
Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Wilson disease, 277900
Source London North GMS was added to ATP7B.
Added phenotypes Wilson disease, 277900 for gene: ATP7B
Source NHS GMS was added to ATP7B.
Source Wessex and West Midlands GLH was added to ATP7B.
Checked panel against panel constituents. Ready to promote to version 1.
Tag treatable tag was added to gene: ATP7B.
gene: ATP7B was added gene: ATP7B was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7B were set to 20301685 Phenotypes for gene: ATP7B were set to Wilson disease 277900